RASGRP1 - RAS guanyl releasing protein 1 Gene

Also Known as IMD64; RASGRP; CALDAG-GEFI; CALDAG-GEFII

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10125

About RASGRP1

Cytogenetic location: 15q14 Genomic coordinates (GRCh38): 15:38,488,103-38,564,814 (from NCBI)

This gene has 25 transcripts (splice variants), 196 orthologues, 24 paralogues and is associated with 2 phenotypes. Broad expression in lymph node (RPKM 12.0), brain (RPKM 10.5) and 15 other tissues.

Summary

This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the ERK/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]

RASGRP1 Products (3)

mRNA	Protein	Name
NM_001128602.2	NP_001122074.1	RAS guanyl-releasing protein 1 isoform b
NM_001306086.2	NP_001293015.1	RAS guanyl-releasing protein 1 isoform c
NM_005739.4	NP_005730.2	RAS guanyl-releasing protein 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables calcium ion binding	IMP IMP: Inferred from mutant phenotype	23908768	GOA
enables diacylglycerol binding	IMP IMP: Inferred from mutant phenotype	23908768	GOA
enables guanyl-nucleotide exchange factor activity	IMP IMP: Inferred from mutant phenotype	23908768	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	23908768	GOA
enables phosphatidylcholine binding	IMP IMP: Inferred from mutant phenotype	23908768	GOA
enables zinc ion binding	IMP IMP: Inferred from mutant phenotype	23908768	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in B cell activation	IMP IMP: Inferred from mutant phenotype	27776107	GOA
involved in B cell proliferation	IMP IMP: Inferred from mutant phenotype	27776107	GOA
involved in T cell activation	IMP IMP: Inferred from mutant phenotype	27776107	GOA
involved in T cell proliferation	IMP IMP: Inferred from mutant phenotype	29155103	GOA
involved in activation of GTPase activity	IDA IDA: Inferred from direct assay	10807788	GOA
involved in activation of GTPase activity	IMP IMP: Inferred from mutant phenotype	12845332	GOA
involved in natural killer cell activation	IMP IMP: Inferred from mutant phenotype	27776107	GOA
involved in positive regulation of MAP kinase activity	IMP IMP: Inferred from mutant phenotype	15899849	GOA
involved in positive regulation of Ras protein signal transduction	IMP IMP: Inferred from mutant phenotype	19933860	GOA
involved in positive regulation of natural killer cell mediated cytotoxicity	IMP IMP: Inferred from mutant phenotype	19933860	GOA
involved in positive regulation of protein phosphorylation	IDA IDA: Inferred from direct assay	21968647	GOA
involved in positive regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	23908768	GOA
involved in regulation of ERK1 and ERK2 cascade	IMP IMP: Inferred from mutant phenotype	23908768	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	21968647	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RASGRP1 Protein Structure

RasGEF_N

RasGEF

EF-hand_6

C1_1

0
200
400
600
797 a.a.

Protein Preferred Names	Protein Names
RAS guanyl-releasing protein 1	RAS guanyl nucleotide-releasing protein 1

RASGRP1 Antibodies

Referencia número	Nombre del producto	Aplicación	Reactivity
HY-P82801	RASGRP1 Antibody (YA2546)	WB	Human
HY-P82801A	RASGRP1 Antibody (YA2546)(PBS only)	WB	Human

Related Diseases

Diseases	Alias
Immunodeficiency 64	IMD64
Autoimmune Lymphoproliferative Syndrome	ALPS Canale-Smith Syndrome Autoimmune Lymphoproliferative Syndrome, Type Ia Autoimmune Lymphoproliferative Syndrome, Type Ib Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant Css Autoimmune Lymphoproliferative Syndrome, Type 1b Autoimmune Lymphoproliferative Syndrome, Type 1a Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant Fas Deficiency Autoimmune Lymphoproliferative Syndrome 1a ALPS1A Autoimmune Lymphoproliferative Syndrome Type Ia Autoimmune Lymphoproliferative Syndrome 1b ALPS1B Autoimmune Lymphoproliferative Syndrome Type Ib
Lupus Erythematosus	Lupus Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus, Systemic Subacute Cutaneous Lupus Le - [Lupus Erythematosus]
Bleeding Disorder, Platelet-Type, 18	Platelet-Type Bleeding Disorder 18 BDPLT18 Bleeding Disorder Due To Calcium- And Dag-Regulated Guanine Exchange Factor-1 Deficiency Bleeding Disorder Due To Caldag-Gefi Deficiency Bleeding Disorder, Platelet Type 18
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
Lymphoproliferative Syndrome	Lymphoproliferative Disorder Lymphoproliferative Disorders Lymphoproliferative Disorders, Susceptibility To
Leukocyte Adhesion Deficiency, Type Iii	Leukocyte Adhesion Deficiency 3 LAD3 Leukocyte Adhesion Deficiency 1 Variant Lad1v Integrin Activation Deficiency Disease Iadd Leukocyte Adhesion Deficiency Type Iii Lad1 Variant Lad-1 Variant Lad-Iii Leukocyte Adhesion Deficiency-1 Variant Leukocyte Adhesion Deficiency Type 1
Immunodeficiency 20	Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Natural Killer Cell Cytotoxicity IMD20 Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Nk Cell Cytotoxicity Cd16 Deficiency Immunodeficiency, Type 20
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Epidermodysplasia Verruciformis 1	Epidermodysplasia Verruciformis Epidermodysplasia Verruciformis, Susceptibility To, 1 Lutz-Lewandowsky Epidermodysplasia Verruciformis EV1 Lewandowsky-Lutz Syndrome Ev
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-N0620	Mulberroside C		99.77%	Unkown
HY-RS11693	RASGRP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22023	Rasgrp1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28541	Rasgrp1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RASGRP1	MGD	MGI:1314635
Bos taurus	RASGRP1	VGNC	VGNC:33747
Canis familiaris	RASGRP1	VGNC	VGNC:58327
Felis catus	RASGRP1	VGNC	VGNC:69251
Macaca mulatta	RASGRP1	VGNC	VGNC:76671
Rattus norvegicus	RASGRP1	RGD	RGD:3539
Others	RASGRP1	NCBI